Pallister-Hall Syndrome
Polydactyly PALLISTER-HALL SYNDROME Ano-cerebro-digital Syndrome Pallister Hall syndrome PHS PALLISTER-HALL SYNDROME; PHS Hypothalamic hamartoblastoma syndrome A syndrome[wikidata.org]
Pallister–Hall syndrome at NLM Genetics Home Reference GeneReviews/NCBI/NIH/UW entry on Pallister–Hall Syndrome Genetics Home Reference[en.wikipedia.org]
Pallister-Hall syndrome, firstly described 40 years ago, is an extremely rare genetic disorder.[symptoma.com]
Hypothalamic Hamartoma
We describe a unique patient in whom magnetic resonance imaging of the fetal brain allowed a prenatal diagnosis of Pallister-Hall syndrome.[ncbi.nlm.nih.gov]
Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies[ncbi.nlm.nih.gov]
We describe a male infant with Pallister-Hall syndrome who had a large HH presenting with infantile spasms without hypsarrhythmia. [(18)F]fluoro-deoxyglucose positron emission[ncbi.nlm.nih.gov]
Pallister W Syndrome
Overview What is Pallister-Hall syndrome? Pallister-Hall syndrome is an inherited condition that can affect different parts of the body.[thinkgenetic.com]
Diagnosis - Pallister-Hall syndrome Both clinical examination and family history are used to diagnose Pallister-Hall syndrome.[checkorphan.org]
Mutations in the GLI3 gene cause Pallister–Hall syndrome.[en.wikipedia.org]
Laryngo-Tracheo-Esophageal Cleft
The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome.[ncbi.nlm.nih.gov]
The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome (see these terms).[orpha.net]
G-syndrome and Pallister Hall Syndrome, may be associated with LTEC (10).[pediatriconcall.com]
Curry Hall Syndrome
PMID 16531732 Gonadal mosaicism in severe Pallister-Hall syndrome.[atlasgeneticsoncology.org]
Mutations in the GLI3 gene cause Pallister-Hall syndrome .[ghr.nlm.nih.gov]
Mutations in the GLI3 gene cause Pallister–Hall syndrome.[en.wikipedia.org]
Hamartoma
Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3.[ncbi.nlm.nih.gov]
Causes Sporadic (95%) Pallister-Hall syndrome (5%) PALLISTER HALL SYNDROME This syndrome includes polydactyly, a bifid epiglottis, dysplastic nails, imperforate anus, kidney[epilepsydiagnosis.org]
Pallister-Hall syndrome, for example, is a genetic condition that can present with deformities of the hands and feet and other anatomical anomalies, including hypothalamic[chop.edu]
Central Polydactyly of Toes
There are certain types of polydactyly that are typically seen in Pallister-Hall syndrome. These include: Mesoaxial (insertional or central) polydactyly.[thinkgenetic.com]
2 oral-facial-digital syndromes oral-facial-digital syndrome (OFDS) type II - Mohr syndrome : post-axial oral-facial-digital syndrome (OFDS) type VI : post-axial 4 Pallister-Hall[radiopaedia.org]
, Joubert-Boltshauser syndrome, Laurin-Sandrow syndrome, McKusick-Kaufman syndrome, mirror hand deformity (ulnar dimelia), Mohr syndrome, oral-facial-digital syndrome, Pallister-Hall[clinicaladvisor.com]
Central Polydactyly of Fingers
There are certain types of polydactyly that are typically seen in Pallister-Hall syndrome. These include: Mesoaxial (insertional or central) polydactyly .[thinkgenetic.com]
GLI3 related disorders - Greig cephalopolysyndactyly syndrome ( GCPS ; MIM 175700), Pallister-Hall syndrome ( PHS : MIM 146510), polydactyly, postaxial, type A1 ( PAPA1 ;[ctgt.net]
2 oral-facial-digital syndromes oral-facial-digital syndrome (OFDS) type II - Mohr syndrome : post-axial oral-facial-digital syndrome (OFDS) type VI : post-axial 4 Pallister-Hall[radiopaedia.org]
Imperforate Anus
Hirschprung's disease and imperforate anus are described concurrently in a newborn with Pallister-Hall syndrome as well as the difficulties in making this diagnosis.[ncbi.nlm.nih.gov]
Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and[ncbi.nlm.nih.gov]
syndrome, McKusick–Kaufman syndrome, Pallister–Hall syndrome, short rib–polydactyly syndrome type 1, Townes–Brocks syndrome, 13q deletion syndrome, urorectal septum malformation[en.wikipedia.org]
Polydactyly
These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital[ncbi.nlm.nih.gov]
91% of patients with Pallister-Hall syndrome.[ncbi.nlm.nih.gov]
The differential diagnostic list of disorders causing hexadactyly includes a number of conditions including Pallister-Hall syndrome and Greig syndrome Hexadactyly is the most[medicinenet.com]